Inadequate family history assessment by oncologists as a physician barrier to referral for cancer genetics evaluation.

Abstract

1535 Background: Cancer genetics programs have been established in tertiary cancer centers in Asia for more than a decade. However, the proportion of high-risk patients who are referred for genetic evaluation remains low, and may be attributed to physician and patient barriers. Methods: We reviewed 3-generation genograms of 6301 cancer (CA) patients constructed by a trained cancer genetics counselor at our centre between 2001 and 2012, and identified 1092 (17.3%) patients with suspected hereditary cancer syndromes. 618 patients were estimated to have ≥10% chance of carrying a BRCA1/2 mutation. Their case records were reviewed to determine the referral pattern to the cancer genetics clinic. Results: Of the 618 high risk patients, 420 (68%) had young onset CA (age <40), 112 (18.1%) were breast CA families, and 58 (9.4%) were breast and ovarian CA families; only 164 (26.5%) were seen in the cancer genetics clinic. Of the 391 records reviewed so far, 132 cases (33.8%) were referred for genetic evaluation. A good family history (FH), defined by obtaining CA history in 3 consecutive generations, was obtained by the primary oncologist in 52.2%, compared to adequate smoking and drinking history in 64.7% of cases (p<0.001). Taking a good FH increased the likelihood of oncologists suspecting hereditary breast and ovarian CA syndrome (50% vs 32.1%; p<0.001), with 79% (128/162) of physician-suspected cases referred for genetic counseling. Young onset CA was more likely to arouse physician suspicion (46.9%) compared to other indications (30.5%, p=0.002). Of the 259 high-risk cases that were not referred, lack of FH evaluation by the oncologist was the most common reason (41.3 %), followed by lack of suspicion despite taking a FH (34.7 %), patient refusal (8.6%), and planned but no formal action (1.6%). Conclusions: Failure to take a good FH and failure to recognize high-risk CA patients despite taking a FH are important physician barriers that resulted in only a third of high-risk breast or ovarian CA patients being referred for cancer genetics evaluation at a tertiary cancer center in Asia. Systematic FH screening by genetic counselors, clinic-based protocols, and continued physician education may rectify this barrier.